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Participating Labs Baylor
The Medical Genetics Laboratories at Baylor College of Medicine in Houston, Texas are recognized providers of
state-of-the art diagnostics to the medical community for over 25 years. We offer comprehensive services for
biochemical, cytogenetic, molecular cytogenetic, and DNA diagnostic testing for a broad range of genetic
diseases. Our laboratories are continually developing new and improved genetic tests, with a proven track
record for rapid translation of gene discoveries from our Department of Molecular and Human Genetics and
elsewhere to the clinical setting. We provide access to board certified geneticists for consultation
regarding interpretations of testing results. Detailed information regarding our laboratories can be accessed
at the following website: Emory
Emory Genetics Laboratory, now part of the Department of Human Genetics, has been providing state-of-the-art
genetic testing services for more than 30 years. Comprehensive biochemical and molecular genetic testing is
available for metabolic diseases associated with newborn screening programs, including DNA sequencing for
specific mutation analysis in galactosemia, PKU and MUSD. We are committed to rapid development of clinical
tests for rare genetic diseases for which the gene has been cloned but clinical testing is not yet widely
available. For more information regarding our testing services, please visit our web site at: GeneDx
Established in March, 2000 by two prominent former NIH scientists, GeneDx, Inc. is a full service genetic
testing and diagnosis company providing rapid DNA-based diagnostic services for more than 80 different rare
hereditary disorders. The company serves the needs of patients, physicians, genetic counselors, and
researchers worldwide. The vast majority of the tests offered by GeneDx are unavailable in any other
CLIA-certified clinical laboratory. In addition, GeneDx provides confirmation of mutations identified in
research laboratories, and custom prenatal and carrier testing services. Hospital for Sick Children
The Molecular Genetics Laboratory is situated in the Department of Laboratory Medicine at the world
renowned Hospital for Sick Children in Toronto. The laboratory has been providing clinical service
for over 15 years and employs state-of-the-art technologies to offer DNA based diagnosis, carrier
detection and prenatal testing. Our laboratory specializes in diseases affecting children with
testing available for a continually expanding list of genetic diseases. All staff members are fully
accredited and available for consultation on appropriate testing, interpretation of results and any
follow up testing. The laboratory is licensed by the Ontario Ministry of Health, Canada, certified
by CLIA (United States) and is accredited by the College of American Pathologists. For more
information on testing services and sample submission please visit our web site at: University of California at Los Angeles (UCLA)
The Orphan Disease Testing Center (ODTC) at UCLA was established to provide rapid and accurate molecular
diagnostic services to relieve the burden on research laboratories that are working on rare hereditary
disorders. The primary intent of this service is to provide validated confirmation of mutations identified
in research laboratories which can then be reported directly to physicians and patients who request such
information for clinical decision-making. Our laboratory is CLIA-certified, CAP-accredited, and overseen
by board-certified directors, thereby ensuring compliance with governmental and professional regulations
and quality assurance guidelines which are not required of research laboratories and are difficult for them
to meet. University of Chicago Genetic Services Laboratories
The University of Chicago Genetic Services Laboratories, in the Department of Human Genetics at the
University of Chicago, specializes in the diagnosis of rare orphan genetic diseases using state-of-the-art
technology. The main goal of the UCGSL is to develop and provide state-of-the-art diagnostics for rare
orphan genetic disease that is not readily available elsewhere, with a major focus on neurogenetic diseases.
The laboratory was the first to offer customized diagnostics, wherein mutations identified in a research
setting can be used for clinical testing purposes. The laboratory is dedicated to the translation of new
genetic findings to new diagnostic tests. For more information regarding our testing services, please visit
our web site at: |